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Variant : CV549131 (NM_000154.2(GALK1):c.410dup (p.Gly138fs)) Homo sapiens

Symbol: CV549131
Name: NM_000154.2(GALK1):c.410dup (p.Gly138fs)
Condition: Deficiency of galactokinase [RCV000674666]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 11/09/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: GALK1  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_000154.1:c.410dupG
NG_008079.1:g.6815dup
NC_000017.11:g.75763390dup
NC_000017.10:g.73759471dup
NP_000145.1:p.Gly138fs
NM_000154.2:c.410dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381775,763,385 - 75,763,385CLINVAR
GRCh371773,759,465 - 73,759,465CLINVAR
Cytogenetic Map1717q25.1CLINVAR
Trait Synonyms: GALACTOSEMIA II



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13789748
Created: 2018-09-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.